Noonan’s Syndrome Associated with Hypoplastic Left Heart

Abstract

A case of a week old female baby, admitted because of apathy, hypothermia, dyspnea, jaundice and cyanosis is described. She had the characteristic phenotype of Turner’s syndrome with normal karyotype. Signs of severe heart failure were present. Therapy with diuretics, digoxin, dopamine and mechanical ventilation were unsuccessful, and the patient died several hours after her admission. The anatomopathological examination revealed the presence of hypoplastic left heart syndrome with mitral atresia and aortic atresia, atrial septal defect, double outlet right ventricle, and a patent ductus arteriosus.

Mediating ERK1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome

“…A relatively higher incidence of HCM was noted in one of these studies (54), implying that mutations in genes other than PTPN11 underlie a majority of the hypertrophic phenotypes observed. Similar to the mouse model presented herein, some NS cases also show the presence of ventricular noncompaction or hypoplasia (56)(57)(58). Despite recent advances in imaging, ventricular noncompaction is still commonly misdiagnosed even if a skilled echocardiographer with previous experience with the condition is involved (59)(60)(61), and this may result in underestimation of the presence of ventricular noncompaction in NS patients.…”

Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation

“…These mainly consist of hypertrophic cardiomyopathy (more than 70%–80%), pulmonary valve stenosis (12%) and atrial septal defect (28%) . So far only one case of HLHS in association with Noonan Syndrome has been reported . However, a detailed genetic analysis has not been performed in this case.…”

Search for pair production of first or second generation leptoquarks in proton-proton collisions ats=7 TeVusing the ATLAS detector at the LHC

“…[8] using the CTEQ6.6 [39] PDF set. The unknown LQ À ' À q coupling value is set to 0:01 Â ffiffiffiffiffiffiffiffiffiffiffiffiffiffiffi ffi 4 EM p .…”

“…Direct leptoquark searches at electron-proton colliders have sensitivity to first generation leptoquarks, but have a non-negligible dependence on the value of the LQ À ' À q coupling [6], whereas second and third generation leptoquarks are produced via lepton-flavor-violation mechanisms [7]. The relatively large cross sections [8] for scalar leptoquark production from proton-proton collisions lead to the expectation that early LHC data offer sensitivity to a mass range beyond that probed by other accelerators. Currently, the most stringent limits come from the Tevatron [9,10] and from the CMS experiment at the LHC [11,12].…”